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Newly Found C1 Inhibitor Gene Mutation in Hereditary Angioedema Patients

✍ Scribed by Rui Tang; Hong-yu Zhang


Book ID
117692274
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
89 KB
Volume
24
Category
Article
ISSN
1001-9294

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Hereditary angioneurotic edema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous and submucosal edema caused by the deficiency of activated C1 esterase inhibitor protein (C1-INH, type I (C1NH): reduced serum antigen level, type II: reduced activity and normal serum